K2C72_HUMAN
ID K2C72_HUMAN Reviewed; 511 AA.
AC Q14CN4; B4DEI8; H9KV51; Q8NA87; Q8WWY9; Q8WWZ0;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Keratin, type II cytoskeletal 72;
DE AltName: Full=Cytokeratin-72;
DE Short=CK-72;
DE AltName: Full=Keratin-72;
DE Short=K72;
DE AltName: Full=Type II inner root sheath-specific keratin-K6irs2;
DE AltName: Full=Type-II keratin Kb35;
GN Name=KRT72; Synonyms=K6IRS2, KB35, KRT6, KRT6IRS2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), AND TISSUE
RP SPECIFICITY.
RX PubMed=11703281; DOI=10.1046/j.1365-2133.2001.04463.x;
RA Porter R.M., Corden L.D., Lunny D.P., Smith F.J.D., Lane E.B.,
RA McLean W.H.I.;
RT "Keratin K6irs is specific to the inner root sheath of hair follicles in
RT mice and humans.";
RL Br. J. Dermatol. 145:558-568(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 5-511, AND VARIANTS ASP-171; CYS-264 AND LEU-428.
RC TISSUE=Cerebellum, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLU-366.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=12648212; DOI=10.1046/j.1523-1747.2003.12087.x;
RA Langbein L., Rogers M.A., Praetzel S., Winter H., Schweizer J.;
RT "K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-
RT specific type II epithelial keratins of the human hair follicle.";
RL J. Invest. Dermatol. 120:512-522(2003).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=16874310; DOI=10.1038/sj.jid.5700494;
RA Langbein L., Rogers M.A., Praetzel-Wunder S., Helmke B., Schirmacher P.,
RA Schweizer J.;
RT "K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) represent
RT the type I inner root sheath keratins of the human hair follicle.";
RL J. Invest. Dermatol. 126:2377-2386(2006).
CC -!- FUNCTION: Has a role in hair formation. Specific component of keratin
CC intermediate filaments in the inner root sheath (IRS) of the hair
CC follicle (Probable). {ECO:0000305}.
CC -!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
CC -!- INTERACTION:
CC Q14CN4; Q9UL45: BLOC1S6; NbExp=3; IntAct=EBI-1221280, EBI-465781;
CC Q14CN4; P13646: KRT13; NbExp=3; IntAct=EBI-1221280, EBI-1223876;
CC Q14CN4; P02533: KRT14; NbExp=3; IntAct=EBI-1221280, EBI-702178;
CC Q14CN4; P19012: KRT15; NbExp=3; IntAct=EBI-1221280, EBI-739566;
CC Q14CN4; P08779: KRT16; NbExp=3; IntAct=EBI-1221280, EBI-356410;
CC Q14CN4; P08727: KRT19; NbExp=3; IntAct=EBI-1221280, EBI-742756;
CC Q14CN4; P35900: KRT20; NbExp=3; IntAct=EBI-1221280, EBI-742094;
CC Q14CN4; Q2M2I5: KRT24; NbExp=3; IntAct=EBI-1221280, EBI-2952736;
CC Q14CN4; Q7Z3Z0: KRT25; NbExp=3; IntAct=EBI-1221280, EBI-11980019;
CC Q14CN4; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-1221280, EBI-3044087;
CC Q14CN4; Q15323: KRT31; NbExp=3; IntAct=EBI-1221280, EBI-948001;
CC Q14CN4; Q14532: KRT32; NbExp=3; IntAct=EBI-1221280, EBI-1044146;
CC Q14CN4; Q14525: KRT33B; NbExp=3; IntAct=EBI-1221280, EBI-1049638;
CC Q14CN4; Q92764: KRT35; NbExp=3; IntAct=EBI-1221280, EBI-1058674;
CC Q14CN4; O76015: KRT38; NbExp=3; IntAct=EBI-1221280, EBI-1047263;
CC Q14CN4; Q6A162: KRT40; NbExp=3; IntAct=EBI-1221280, EBI-10171697;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q14CN4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q14CN4-2; Sequence=VSP_030416;
CC Name=3;
CC IsoId=Q14CN4-3; Sequence=VSP_045280;
CC -!- TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp and
CC eyebrow. Also expressed in palmoplantar epidermis. Not expressed in
CC face skin despite the presence of fine hairs histologically. In hair,
CC it is specifically present in the inner root sheath (IRS) of the hair
CC follicle. Present in the IRS cuticle, but not in Henle or Huxley layers
CC of the IRS. In the IRS cuticle, its presence is delayed up to the
CC height of the apex of the dermal papilla (at protein level).
CC {ECO:0000269|PubMed:11703281, ECO:0000269|PubMed:12648212,
CC ECO:0000269|PubMed:16874310}.
CC -!- MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar
CC keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa,
CC respectively).
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
CC -!- CAUTION: Was initially thought to be the ortholog of mouse KRT71.
CC {ECO:0000305|PubMed:11703281}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04039.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY033496; AAK55109.1; -; Genomic_DNA.
DR EMBL; AY033495; AAK55108.1; -; mRNA.
DR EMBL; AK093060; BAC04039.1; ALT_INIT; mRNA.
DR EMBL; AK293645; BAG57099.1; -; mRNA.
DR EMBL; AC055715; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC113686; AAI13687.1; -; mRNA.
DR CCDS; CCDS53795.1; -. [Q14CN4-3]
DR CCDS; CCDS8833.1; -. [Q14CN4-1]
DR RefSeq; NP_001139697.1; NM_001146225.1. [Q14CN4-1]
DR RefSeq; NP_001139698.1; NM_001146226.1. [Q14CN4-3]
DR RefSeq; NP_542785.1; NM_080747.2. [Q14CN4-1]
DR AlphaFoldDB; Q14CN4; -.
DR SMR; Q14CN4; -.
DR BioGRID; 126715; 49.
DR IntAct; Q14CN4; 24.
DR STRING; 9606.ENSP00000293745; -.
DR iPTMnet; Q14CN4; -.
DR PhosphoSitePlus; Q14CN4; -.
DR SwissPalm; Q14CN4; -.
DR BioMuta; KRT72; -.
DR DMDM; 166218813; -.
DR jPOST; Q14CN4; -.
DR MassIVE; Q14CN4; -.
DR PaxDb; Q14CN4; -.
DR PeptideAtlas; Q14CN4; -.
DR PRIDE; Q14CN4; -.
DR ProteomicsDB; 46210; -.
DR ProteomicsDB; 60329; -. [Q14CN4-1]
DR ProteomicsDB; 60330; -. [Q14CN4-2]
DR Antibodypedia; 55991; 122 antibodies from 21 providers.
DR DNASU; 140807; -.
DR Ensembl; ENST00000293745.7; ENSP00000293745.2; ENSG00000170486.11. [Q14CN4-1]
DR Ensembl; ENST00000354310.4; ENSP00000346269.4; ENSG00000170486.11. [Q14CN4-3]
DR Ensembl; ENST00000537672.6; ENSP00000441160.2; ENSG00000170486.11. [Q14CN4-1]
DR GeneID; 140807; -.
DR KEGG; hsa:140807; -.
DR MANE-Select; ENST00000293745.7; ENSP00000293745.2; NM_080747.3; NP_542785.1.
DR UCSC; uc001saq.2; human. [Q14CN4-1]
DR CTD; 140807; -.
DR DisGeNET; 140807; -.
DR GeneCards; KRT72; -.
DR HGNC; HGNC:28932; KRT72.
DR HPA; ENSG00000170486; Group enriched (skin, testis).
DR MIM; 608246; gene.
DR neXtProt; NX_Q14CN4; -.
DR OpenTargets; ENSG00000170486; -.
DR PharmGKB; PA147357719; -.
DR VEuPathDB; HostDB:ENSG00000170486; -.
DR eggNOG; ENOG502T3SC; Eukaryota.
DR GeneTree; ENSGT00940000162105; -.
DR HOGENOM; CLU_012560_6_1_1; -.
DR InParanoid; Q14CN4; -.
DR OMA; CKKRYEV; -.
DR OrthoDB; 671547at2759; -.
DR PhylomeDB; Q14CN4; -.
DR TreeFam; TF317854; -.
DR PathwayCommons; Q14CN4; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q14CN4; -.
DR BioGRID-ORCS; 140807; 13 hits in 1067 CRISPR screens.
DR GenomeRNAi; 140807; -.
DR Pharos; Q14CN4; Tbio.
DR PRO; PR:Q14CN4; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q14CN4; protein.
DR Bgee; ENSG00000170486; Expressed in granulocyte and 75 other tissues.
DR ExpressionAtlas; Q14CN4; baseline and differential.
DR Genevisible; Q14CN4; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0045095; C:keratin filament; IBA:GO_Central.
DR GO; GO:0030280; F:structural constituent of skin epidermis; IBA:GO_Central.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR GO; GO:0031424; P:keratinization; IBA:GO_Central.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR032444; Keratin_2_head.
DR InterPro; IPR003054; Keratin_II.
DR Pfam; PF00038; Filament; 1.
DR Pfam; PF16208; Keratin_2_head; 1.
DR PRINTS; PR01276; TYPE2KERATIN.
DR SMART; SM01391; Filament; 1.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Intermediate filament; Keratin;
KW Reference proteome.
FT CHAIN 1..511
FT /note="Keratin, type II cytoskeletal 72"
FT /id="PRO_0000314877"
FT DOMAIN 125..438
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..124
FT /note="Head"
FT REGION 125..160
FT /note="Coil 1A"
FT REGION 161..179
FT /note="Linker 1"
FT REGION 180..271
FT /note="Coil 1B"
FT REGION 272..295
FT /note="Linker 12"
FT REGION 296..434
FT /note="Coil 2"
FT REGION 435..511
FT /note="Tail"
FT REGION 486..511
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 496..511
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 376
FT /note="Stutter"
FT VAR_SEQ 322..363
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045280"
FT VAR_SEQ 363
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11703281"
FT /id="VSP_030416"
FT VARIANT 171
FT /note="N -> D (in dbSNP:rs11170187)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038087"
FT VARIANT 264
FT /note="Y -> C (in dbSNP:rs12833456)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038088"
FT VARIANT 326
FT /note="Q -> E (in dbSNP:rs34769047)"
FT /id="VAR_061298"
FT VARIANT 366
FT /note="D -> E (in dbSNP:rs7310138)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_038089"
FT VARIANT 428
FT /note="R -> L (in dbSNP:rs11170183)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038090"
SQ SEQUENCE 511 AA; 55877 MW; 61E830C382063731 CRC64;
MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI QRIRSEIGNV
KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK EELARMLREY QELVSLKLAL
DMEIATYRKL LESEECRMSG EYPNSVSISV ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA
DVKTKGSCGS ELKDPLAKTS GSSCATKKAS R
